Variant Details

Variant: nsv1160264

Internal ID

18956535

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr15:30297594..30457226	hg38	UCSC Ensembl
Outer	chr15:30291233..30462844	hg38	UCSC Ensembl
Inner	chr15:30589797..30749429	hg19	UCSC Ensembl
Outer	chr15:30583436..30755047	hg19	UCSC Ensembl

Cytoband

15q13.2

Allele length

Assembly	Allele length
hg38	171612
hg19	171612

Variant Type

CNV duplication

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv4032148, nssv4032180, nssv4032181, nssv4032101, nssv4032202, nssv4032183, nssv4032138, nssv4032158, nssv4032169, nssv4032203, nssv4032121, nssv4032140, nssv4032147, nssv4032107, nssv4032109, nssv4032146, nssv4032139, nssv4032155, nssv4032204, nssv4032185, nssv4032154, nssv4032132, nssv4032172, nssv4032198, nssv4032190, nssv4032118, nssv4032162, nssv4032120, nssv4032199, nssv4032171, nssv4032143, nssv4032184, nssv4032144, nssv4032193, nssv4032129, nssv4032112, nssv4032099, nssv4032167, nssv4032150, nssv4032159, nssv4032175, nssv4032164, nssv4032127, nssv4032160, nssv4032201, nssv4032124, nssv4032145, nssv4032128, nssv4032152, nssv4032188, nssv4032106, nssv4032130, nssv4032103, nssv4032151, nssv4032100, nssv4032137, nssv4032161, nssv4032196, nssv4032102, nssv4032173, nssv4032131, nssv4032117, nssv4032182, nssv4032195, nssv4032111, nssv4032104, nssv4032177, nssv4032115, nssv4032192, nssv4032116, nssv4032125, nssv4032119, nssv4032156, nssv4032168, nssv4032153, nssv4032135, nssv4032189, nssv4032170, nssv4032098, nssv4032166, nssv4032176, nssv4032186, nssv4032187, nssv4032105, nssv4032174, nssv4032179, nssv4032205, nssv4032136, nssv4032133, nssv4032197, nssv4032123, nssv4032163, nssv4032122, nssv4032165, nssv4032126, nssv4032200, nssv4032149, nssv4032157, nssv4032114, nssv4032141, nssv4032191, nssv4032142, nssv4032113, nssv4032110, nssv4032178, nssv4032194, nssv4032134, nssv4032108

Samples

Known Genes

CHRFAM7A, LOC101059918

Method

SNP array

Analysis

1) We applied common software Birdsuite to detect genome-wide CNVs; 2) we used our algorithm WinXPCNVer which is based on probe intensity to identify Tibetan specific CNV; 3) we further genotyped the discovered Tibetan specific CNV by K-means and manual observation.

Platform

Affymetrix SNP Array 6.0

Comments

Reference

Lou_et_al_2015

Pubmed ID

26073780

Accession Number(s)

nsv1160264

Frequency

Sample Size	369
Observed Gain	108
Observed Loss	0
Observed Complex	0
Frequency	n/a